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Strong association of SLCIA1 and DPF3 gene variants with idiopathic male infertility in Han Chinese

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Asian Journal of Andrology 2017年第4期19卷 486-492页

作者： Shu-Yuan Liu Chang-Jun Zhang Hai-Ying Peng Hao Sun Ke-Qin Lin Xiao-Qin Huang Kai Huang jia-you chu Zhao-Qing Yang Department of Medical Genetics Institute of Medical Biology Chinese Academy of Medical Sciences and Peking Union Medical College Kunming 650118 China Reproductive Medical Research Centre People's Hospital of Shiyan Shiyan 442000 China

Male infertility is a multifactorial syndrome encompassing a wide variety of disorders. In recent years, several genome-wide single-nucleotide polymorphism （SNP） association studies （GWAS） have been performed on azoospermia and/or oligozoospermia in different populations including two GWAS on nonobstructive azoospermia in China; however, the association of SNPs with idiopathic male infertility, especially asthenozoospermia and oligozoospermia, and their correlation with semen parameters are still not clear. To investigate genetic variants associated with idiopathic male infertility （asthenozoospermia, oligozoospermia, and oligoasthenozoospermia） in Chinese Han people, 20 candidate SNPs were selected from GWAS results and genotyped using the Sequenom MassARRAY assay. A total of 136 subfertile men and 456 healthy fertile men were recruited, rs6476866 in SLCIA1 （P = 1.919E-4, OR = 0.5905, 95% Ch 0.447-0.78） and rs10129954 in DPF3 （P = 0.0023, OR = 2.199, 95% Ch 1.311-3.689） were strongly associated with idiopathic male infertility. In addition, positive associations were observed between asthenozoospermia and rs215702 in LSM5 （P= 0.0016, OR = 1.479, 95% CI： 1.075-2.033） and between oligoasthenozoospermia and rs2477686 in PEXIO （P= 0.0011, OR = 2.935, 95% Ch 1.492-5.775）. In addition, six SNPs （rs215702 in LSMS, rs6476866 in SLCIA1, rs10129954 in DPF3, rs1801133 in MTHFR, rs2477686 in PEXIO, and rs10841496 in PED3A） were significantly correlated with semen quality alterations. Our results suggest that idiopathic male infertility in different ethnic groups may share the same mechanism or pathway. Cohort expansion and further mechanistic studies on the role of genetic factors that influence spermatogenesis and sperm progressive motility are suggested.

关键词： candidate SNPs Han Chinese idiopathic male infertility semen quality

HLA polymorphism of the Zhuang population reflects the common HLA characteristics among Zhuang-Dong language-speaking populations

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2011年第6期12卷 428-435页

作者： Li SHI Xiao-qin HUANG Lei SHI Yu-fen TAO Yu-feng YAO Liang YU Ke-qin LIN Wen YI Hao SUN Katsushi TOKUNAGA jia-you chu Institute of Medical Biology Chinese Academy of Medical Sciences & Peking Union Medical College Kunming 650118 China Department of Human Genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan Department of Human Genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan Department of Human Genetics Graduate School of Medicine University of Tokyo Tokyo 113-0033 Japan

A study of the human leukocyte antigen （HLA） genetic characteristics in the Zhuang, the largest ethnic population in China, would provide insight into Zhuang history and give a useful tool for disease associations, transplantation, and anthropology. In the present study, we report the comprehensive HLA-A, HLA-B, HLA-C, and HLA-DRB1 alleles and haplotypes in the Zhuang population of southern China for the first time. A total of 13 HLA-A, 24 HLA-B, 22 HLA-C, and 18 HLA-DRB1 were identified in 104 Zhuang individuals. The frequencies of HLA-A＊11：01, A^＊02：07, A^＊24：02, A^＊02：03, and A^＊33：03 on A loci, B^＊15：02, B^＊58：01, B^＊46：01, and B^＊13：01 on B loci, C^＊03：04, C^＊08：01, C^＊01：02, C^＊03：02, and C^＊07：02 on C loci, and DRBl＊15：01, DRBl^＊16：02, DRB1^＊14：01, DRBl^＊15：02, and DRBI^＊03：01 on the DRB1 loci were 〉10%. The A^＊33：03-C^＊03：02-B^＊58：01-DRBl^＊03：01 and A^＊02：07-C^＊01：02- B^＊46：01-DRB1^＊14：01 haplotypes were predominant in the Zhuang. The phylogenetic tree, as well as the analysis of haplotypes, suggested that the Zhuang are genetically similar to southern Chinese populations, especially the Zhuang-Dong language-speaking populations, such as the Bouyei, Dai, and Maonan. Even though the Zhuang and southern Chinese populations shared common alleles and haplotypes, the Zhuang has maintained its unique genetic characteristics.

关键词： Human leukocyte antigen (HLA) alleles Haplotypes Zhuang population

Positive Selection of CAG Repeats of the ATXN2 Gene in Chinese Ethnic Groups

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Journal of Genetics and Genomics 2013年第10期40卷 543-548页

作者： Xiao-Chen Chen Hao Sun Chang-Jun Zhang Ying Zhang Ke-Qin Lin Liang Yu Lei Shi Yu-Fen Tao Xiao-Qin Huang jia-you chu Zhao-Qing Yang Department of Medical Genetics Institute of Medical BiologyChinese Academy of Medical Sciences and Peking Union Medical College935 Jiaoling RoadKunming 650118YunnanChina Reproductive Medicine Center Hubei University of MedicineShiyan 442000China

The ataxin-2 （ATXN2） gene is located on human chromo-some 12q24.1. In normal individuals, the coding region in exon 1 of this gene has fewer than 31 CAG repeats （Yu et al., 2005： Laffita-Mesa et al., 2012）. However, an abnormal expansion of CAG trinucleotide repeats results in the aggre-gation of polyglutamine （polyQ）, which causes spinocer-ebellar ataxia type 2 （SCA2）（Pulst et al., 1996）. The expanded alleles have more than 32 repeats in the affected individuals, and generally there is an inverse correlation between CAG repeat length and age of onset （Pulst et al., 1996）. SCA2 is an autosomal dominant inheritance neurodegenerative disease, whose major clinical feature is progressive cerebellar ataxia. Atrophies of the brainstem and frontal lobe have been frequently detected by magnetic resonance imaging （MRI）（Yamamoto-Watanabe et al., 2010）. This disease has the strong effect on sensory and motor control.

关键词： CAG Gene Positive Selection of CAG Repeats of the ATXN2 Gene in Chinese Ethnic Groups

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肿瘤基因组中体细胞性改变的研究进展

世界华人消化杂志 2007年第28期15卷 3029-3034页

作者：杨壹羚褚嘉祐中国医学科学院北京协和医学院医学生物学研究所遗传室云南省昆明市650118

大部分人类肿瘤是由基因组中的体细胞性改变所导致的癌基因激活或抑癌基因失活所引发的.本文总结了近年来肿瘤基因组中体细胞性改变的研究状况,我们主要关注人类基因组计划为肿瘤相关基因的鉴定所带来的机遇并讨论以全基因组分析为基础... 详细信息

大部分人类肿瘤是由基因组中的体细胞性改变所导致的癌基因激活或抑癌基因失活所引发的.本文总结了近年来肿瘤基因组中体细胞性改变的研究状况,我们主要关注人类基因组计划为肿瘤相关基因的鉴定所带来的机遇并讨论以全基因组分析为基础的研究进展.

关键词：肿瘤基因组体细胞性改变人类基因组计划突变

Regulation of alternative splicing of Bcl-x by IL-6,GM-CSF and TPA

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Cell Research 2004年第6期14卷 473-479页

作者： Chang you LI, jia you chu, jian Kun YU, Xiao Qin HUANG, Xiao Juan LIU, Li SHI, Yan chun CHE, Jiu Yong XIE Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming 650118, China. Department of Physiology, Faculty of Medicine, University of Manitoba, 420 BMSB, 730 William Ave., Winnipeg, MB R3E 3J7, Canada. Institute of Medical Biology Chinese Academy of Medical Sciences and Peking Union Medical College Kunming 650118 China

The splicing of many alternative exons in the precursor messenger RNA (pre-mRNA) is regulated by extracellular factors but the underlying molecular bases remain unclear. Here we report the differential regulation of Bcl-x pre-mRNA splicing by extracellular factors and their distinct requirements for pre-mRNA elements. In K562 leukemia cells, treatment with interleukin-6 (IL-6) or granulocyte-macrophage colony stimulating factor (GM-CSF) reduced the proportion of the Bcl-xL variant mRNA while treatment with 12-O-tetradecanoylphorbol 13-acetate (TPA) had no effect. In U251 glioma cells, however, TPA efficiently increased the Bcl-xL level. These regulations were also seen for a transfected splicing reporter mini-gene. Further analyses of deletion mutants indicate that nucleotides 1-176 of the downstream intron are required for the IL-6 effect, whereas additional nucleotides 177-284 are essential for the GM-CSF effect. As for the TPA effect, only nucleotides 1-76 are required in the downstream intron. Thus,

关键词： alternative splicing bcl-x gene cytokine TPA pre-mRNA element.

CAG-repeat variant in the polymerase γ gene and male infertility in the Chinese population： a meta-analysis

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Asian Journal of Andrology 2011年第2期13卷 298-304页

作者： Shu-Yuan Liu Chang-Jun Zhang Hai-Ying Peng Yu-Feng Yao Lei Shi Jin-Bao Chen Ke-Qin Lin Liang Yu Li Shi Xiao-Qin Huang Hao Sun jia-you chu Department of Medical Genetics Institute of Medical Biology Chinese Academy of Medical Sciences and Peking Union Medical College Kunming 650118 China Reproductive of Medical Research Centre of People＇s Hospital of Shiyan 442000 Shiyan China

Several studies have reported a relationship between the length of the CAG-repeat in the polymerase y （POLG） gene and male infertility. However, other studies have not reproduced this result. In our study, the POLG-CAG-repeat length was analyzed in 535 healthy individuals from six Chinese Han populations living in different provinces. The frequencies of IO-CAG alleles and genotypes were high （97.38 and 94.13%, respectively）, with no significant difference among the six Chinese Han populations. Furthermore, we determined the distribution of the POLG-CAG-repeat in 150 infertile men and 126 fertile men. Our study suggested that the distributions of POLG-CAG-repeat alleles and genotypes were not significantly different between infertile （95.67 and 92.67%, respectively） and fertile men （97.22 and 94.44%, respectively）. In a subsequent meta-analysis, combining our data with data from previous studies, a comparison of the CAG-repeat alleles in fertile versus infertile men showed no obvious risk for male infertility associated with any particular allele （pooled odds ratio （0R）=0.94; 95% confidence interval （CI）： 0.60-1.48）. The significance level was not attained with any of the following genetic models： homozygote comparison （not lO/not 10 versus 10110： OR= 1.34; 95% Ch 0.66-2.72）, heterozygote comparison （lO/not 10 versus 10/10： OR= 1.04; 95% Ch 0.78-1.38）, dominant model comparison （not lO/not 10＋ 101 not 10 versus 10110. OR= 1.08; 95% Ch 0.79-1.47） and recessive genetic comparison （not lO/not 10 versus lO/not 10＋ 10/10- OR= 1.31; 95% Ch 0.68-2.55）. In conclusion, there is no significant difference of the frequencies of POLG-CAG-repeat variants among six Chinese Han populations, and this polymorphism may not be associated with Chinese male infertility. On the basis of a meta-analysis, there is no obvious association between CAG-repeat variants of the POLG gene and male infertility.

关键词： case-control study male infertility meta-analysis POLG-CAG-repeat

Clinopyroxene and Fe-Ti oxides for correlating the ash from Changbaishan Millennium eruption

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Science China Earth Sciences 2016年第7期59卷 1454-1462页

作者： SUN chun Qing LIU jia Qi you Hai Tao chu Guo Qiang Key Laboratory of Cenozoic Geology and Environment Institute of Geology and Geophysics Chinese Academy of Sciences College of Earth Science University of Chinese Academy of Sciences Key Laboratory of Computational Geodynamics College of Earth Science University of Chinese Academy of Sciences

Volcanic glass compositions and tephra layer age are critical for anchoring their sources and correlating among different sites; however, such work may be imprecise when the tephra has varied compositions. The ash from Changbaishan Millennium eruption(940s AD), a widely distributed tephra layer, has been detected in the far-east areas of Russia, the Korean Peninsula, Japan, and in Greenland ice cores. There are some debates on the presence of this tephra from sedimentary archives to the west of Changbaishan volcano, such as lake and peat sediments in the Longgang volcanic field. In this paper, major element compositions for clinopyroxene and Fe-Ti oxides were performed on proximal tephra from Changbaishan and the Millennium eruption ash record in Lake Sihailongwan. Clinopyroxene and Fe-Ti oxides microlites from Sihailongwan show augite-ferroaugite and titanmagnetite compositions, similar to those from dark pumice in Changbaishan proximal tephra, but different from the light grey pumice, which has ferrohedenbergite and ilmenite microlite compositions. This result implies that the tephra recorded in Sihailongwan was mainly from the trachytic eruptive phase of the Millennium eruption, and the rhyolitic eruptive phase made a relatively small contribution to this area. Analyzing clinopyroxene and Fe-Ti oxides microlites is a new method for correlating tephra layers from Changbaishan Millennium eruption.

关键词： Tephra Millennium eruption Changbaishan volcano Sihailongwan Clinopyroxene Fe-Ti oxides

Studies on Rate Enhancement of Polymerization in NMRP

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Chemical Research in Chinese Universities 2005年第6期21卷 734-736页

作者： HUANG jian-ying XU Miao-qing YAN Ming-fa CHEN Yi-hong chu jia-yan ZHUANG jia-ming DAI Li-zong ZOU you-si Department of Materials Science and Engineering Xiamen University Xiamen 361005 P. R. China Department of Chemistry Quanzhou Normal College Quanzhou 362000 P. R. China

In NMRP, the polymerization of MMA, the polymerization of St and the copolymerization of MMA with St were distinctly accelerated by the addition of a small amount of MN. The polymerization proceeds in a living fashion as indicated by the increase in molecular weight with the increase of time and conversion and a relatively low polydispersity. It has been found that the addition of MN results in a nearly one hundred times higher rate of the polymerization of MMA, a nearly twenty times higher rate of the polymerization of St and a nearly fifteen times higher rate of the copolymerization of St and MMA.

关键词： Rate enhancement Living free radical polymerization TEMPO MN

Granulocyte-macrophage colony-stimulating factor DNA prime-protein boost strategy to enhance efficacy of a recombinant pertussis DNA vac-cine

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Acta Pharmacologica Sinica 2006年第11期27卷 1487-1494页

作者： Qing-tian LI~(2,3,5)Yong-zhang ZHU~(2,3,5)jia-you chu~(2,6)Ke DONG~3 Ping HE~3 chun-yan FENG~3 Bao-yu HU~3 Shu-min ZHANG~4 Xiao-kui GUO~(3,6)2 Institute of Medical Biology,Peking Union Medical College and Chinese Academy of Medical Sciences,Kunming 650118,China 3 Department of Medical Microbiology and Parasitology,Shanghai jiao Tong University School of Medicine,Shanghai 200025,China 4 Chinese National Institute for the Control of Pharmaceutical and Biological Products,Beijing 100050,China InstituteofMedicalBiology PekingUnionMedicalCollegeandChineseAcademyofMedicalSciencesKunming650118China DepartmentofMedicalMicrobiologyandParasitology ShanghaiJiaoTongUniversitySchoolofMedicineShanghai200025China

Aim:To investigate a new strategy to enhance the efficacy of a recombinantpertussis DNA *** strategy is co-injection with cytokine plasmids asprime,and boosted with purified homologous ***:A recombinantpertussis DNA vaccine containing the pertussis toxin subunit 1(PTS 1),fragmentsof the filamentous hemagglutinin(FHA)gene and pertactin(PRN)gene encodingfilamentous hemagglutinin and pertactin were ***/c mice were im-munized with several DNA vaccines and antigen-specific antibodies anti-PTS1,anti-PRN,anti-FHA,cytokines interleukin(IL)-10,IL-4,IFN-γ,TNF-α,and spleno-cyte-proliferation assay were used to describe immune ***:Therecombinant DNA vaccine could elicit similar immune responses in mice as that ofseparate plasmids encoding the 3 fragments,*** immunized withDNA and boosted with the corresponding protein elicited more antibodies thanthose that received DNA as *** particular,when the mice were co-immu-nized with murine granulocyte-macrophage colony-stimulating factor plasmidsand boosted with proteins,all 4 cytokines and the 3 antigen-specific antibodieswere significantly increased compared to the pVAX1 ***-PTS1,anti-FHA,IL-4 and TNF-α elicited in the colony stimulating factor(CSF)prime-proteinboost group showed significant increase compared to all the other ***:This prime and boost strategy has proven to be very useful in im-proving the immunogenicity of DNA vaccines against pertussis.

关键词： granulocyte-macrophage colony-stimulating factor pertussis DNA vaccines